N-Acetyl-leucine in progressive CACNA1A ataxia: A case series.

Background: CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.

Moving Past the Status Quo: Redefining the Feedback Landscape for Junior Clinician-Educator Career Development.

This perspective piece addresses the challenges junior clinician-educators face as they navigate career development within academic medical centers. In addition to understanding local promotion and tenure processes and seeking mentorship, we argue that faculty feedback is an often neglected, but essential, component in clinician-educator development. We repurpose and use the MISCA model-Message, Implementation, Student, Context, and Agents-as a framework to better understand and improve feedback for faculty.

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.

Mutations in the mitochondrial enzyme propionyl-CoA carboxylase (PCC) cause propionic aciduria (PA). Chronic kidney disease (CKD) is a known long-term complication. However, good metabolic control and standard therapy fail to prevent CKD.

Enhancement of Family-Centred Care Is Associated with a Reduction in Postmenstrual Age at Discharge in Preterm Infants.

Background/objectives: Long hospitalisation has been recognized as an independent risk factor for poor neurodevelopmental outcomes of preterm infants. Systematic training and early inclusion of parents in their preterm infant's care is a strategy to shorten the length of hospital stay. We implemented an enhanced stepwise family-centred care program and assessed its effects on postmenstrual age (PMA) at discharge and parental satisfaction.

The role of the co-chaperone DNAJB11 in polycystic kidney disease: Molecular mechanisms and cellular origin of cyst formation.

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2, encoding polycystin-1 (PC1) and polycystin-2 (PC2), which are required for the regulation of the renal tubular diameter. Loss of polycystin function results in cyst formation. Atypical forms of ADPKD are caused by mutations in genes encoding endoplasmic reticulum (ER)-resident proteins through mechanisms that are not well understood.